Linked Data
ClinVar Variation Id:
888995
ClinVar RCV Id:
RCV001122648
dbSNP Id:
rs149452625
ExAC:
19:17942515 G / A
gnomAD v2:
19-17942515-G-A
gnomAD v3:
19-17831706-G-A
gnomAD v4:
19-17831706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17831706G>A , CM000681.2:g.17831706G>A | GRCh38 |
| NC_000019.9:g.17942515G>A , CM000681.1:g.17942515G>A | GRCh37 |
| NC_000019.8:g.17803515G>A | NCBI36 |
| NG_007273.1:g.21286C>T , LRG_77:g.21286C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526008.6:c.*1330C>T | ENSP00000513006.1:n.*1330C>T | |
| ENST00000696967.1:n.1950C>T | ||
| ENST00000696969.1:n.1730C>T | ||
| ENST00000458235.7:c.2773C>T MANE Select | ENSP00000391676.1:p.Arg925Cys | |
| ENST00000458235.5:c.2773C>T | ENSP00000391676.1:p.Arg925Cys | |
| ENST00000527031.5:n.2278+5021C>T | ||
| ENST00000527670.5:c.2773C>T | ENSP00000432511.1:p.Arg925Cys | |
| ENST00000534444.1:c.2773C>T | ENSP00000436421.1:p.Arg925Cys | |
| NM_000215.3:c.2773C>T , LRG_77t1:c.2773C>T | NP_000206.2:p.Arg925Cys | |
| XM_005259896.2:c.2902C>T | XP_005259953.1:p.Arg968Cys | |
| XM_006722745.2:c.2773C>T | XP_006722808.1:p.Arg925Cys | |
| XM_005259896.3:c.2902C>T | XP_005259953.1:p.Arg968Cys | |
| NM_000215.4:c.2773C>T MANE Select | NP_000206.2:p.Arg925Cys |